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Cutis Laxa

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Cutis Laxa is not the name you expected.

Disorder Subdivisions

None

General Discussion

SummaryCutis laxa is a general term for a group of rare disorders that may occur in several inherited (congenital) forms or acquired at some point during life (acquired cutis laxa). This group of disorders involves a wide spectrum of symptoms and signs that result from defects in connective tissue, the material between cells of the body that gives the tissue form and strength. Connective tissue is found throughout the body in muscles, joints, skin and other organs. Cutis laxa is characterized by skin that is loose (lax), wrinkled, sagging, redundant, and lacking elasticity (inelastic). When stretched, inelastic skin returns to place abnormally slowly. The skin around the face, arms, legs and trunk is most commonly affected. Abnormal skin may give affected individuals and children a prematurely-aged appearance and they can look much older than their true age. Unlike similar skin disorders, easy bruising and scarring are generally not associated with cutis laxa. The joints are often abnormally loose (hypermobility) because of lax ligaments and tendons. Several inherited forms of the disorder have been identified. Most cases are inherited as either an autosomal dominant or recessive disorder. An X-linked form of cutis laxa, known as occipital horn syndrome, is now considered a mild form of disorders of copper metabolism caused by a mutation in the ATP7A gene and is not discussed in this report.

Supporting Organizations

Cutis Laxa Internationale

138 impasse de Champs Gervais

74890 Bons en Chablais,

France

Tel: 33456307443

Fax: 33456307443

Email: mcjlboiteux@aol.com

Website: http://www.cutislaxa.org/

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675

USA

Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

Email: NIAMSinfo@mail.nih.gov

Website: http://www.niams.nih.gov/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 9/22/2015Copyright 2014 National Organization for Rare Disorders, Inc.

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